Canonical Allele Identifier: CA426118676

Gene: TTC7A STPG4

Linked Data

• COSMIC: COSM6158536
• MyVariant Identifiers: chr2:g.47300960C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47073821C>A , CM000664.2:g.47073821C>A	GRCh38
NC_000002.11:g.47300960C>A , CM000664.1:g.47300960C>A	GRCh37
NC_000002.10:g.47154464C>A	NCBI36
NG_034143.1:g.162693C>A
NG_034143.2:g.162693C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000698500.1:n.4308C>A (TTC7A)
ENST00000698503.1:n.2481C>A (TTC7A)
ENST00000319190.11:c.2475C>A (TTC7A) MANE Select	ENSP00000316699.5:p.Ala825=
ENST00000651101.1:n.1073C>A (TTC7A)
ENST00000651415.1:n.1266C>A (TTC7A)
ENST00000652236.1:n.1176C>A (TTC7A)
ENST00000652568.1:n.1148C>A (TTC7A)
ENST00000319190.9:c.2475C>A (TTC7A)	ENSP00000316699.5:p.Ala825=
ENST00000394850.6:c.2547C>A (TTC7A)	ENSP00000378320.2:p.Ala849=
ENST00000409245.5:c.2373C>A (TTC7A)	ENSP00000386307.1:p.Ala791=
ENST00000409825.5:c.2423C>A (TTC7A)
ENST00000422269.1:c.787-7684G>T
ENST00000441914.5:c.2316C>A (TTC7A)
ENST00000464527.2:n.399-7684G>T (STPG4)
ENST00000482548.1:n.402-5265G>T (STPG4)
ENST00000484061.5:n.1582C>A (TTC7A)
ENST00000491786.5:n.1879C>A (TTC7A)
ENST00000496939.1:n.416-26902G>T (STPG4)
NM_001288951.1:c.2547C>A (TTC7A)	NP_001275880.1:p.Ala849=
NM_001288953.1:c.2373C>A (TTC7A)	NP_001275882.1:p.Ala791=
NM_001288955.1:c.1413C>A (TTC7A)	NP_001275884.1:p.Ala471=
NM_020458.3:c.2475C>A (TTC7A)	NP_065191.2:p.Ala825=
XM_005264439.2:c.2118C>A (TTC7A)	XP_005264496.1:p.Ala706=
XM_011532998.1:c.2118C>A (TTC7A)	XP_011531300.1:p.Ala706=
XM_011533000.1:c.1695C>A (TTC7A)	XP_011531302.1:p.Ala565=
XM_011533001.1:c.1428C>A (TTC7A)	XP_011531303.1:p.Ala476=
XM_005264439.4:c.2118C>A (TTC7A)	XP_005264496.1:p.Ala706=
XM_011532998.3:c.2118C>A (TTC7A)	XP_011531300.1:p.Ala706=
XM_011533000.3:c.1695C>A (TTC7A)	XP_011531302.1:p.Ala565=
XM_011533001.3:c.1428C>A (TTC7A)	XP_011531303.1:p.Ala476=
XM_017004524.1:c.2358C>A (TTC7A)	XP_016860013.1:p.Ala786=
XM_017004525.1:c.2307C>A (TTC7A)	XP_016860014.1:p.Ala769=
XM_017004526.1:c.2226C>A (TTC7A)	XP_016860015.1:p.Ala742=
XM_024453013.1:c.1440C>A (TTC7A)	XP_024308781.1:p.Ala480=
NM_020458.4:c.2475C>A (TTC7A) MANE Select	NP_065191.2:p.Ala825=
NM_001288951.2:c.2547C>A (TTC7A)	NP_001275880.1:p.Ala849=
NM_001288953.2:c.2373C>A (TTC7A)	NP_001275882.1:p.Ala791=
NM_001288955.2:c.1413C>A (TTC7A)	NP_001275884.1:p.Ala471=